Hydrocephalus
Gene: ICKAdded new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1Created: 25 Sep 2019, 10:03 a.m. | Last Modified: 25 Sep 2019, 10:03 a.m.
Panel Version: 1.37
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Comment when marking as ready: Only a single missense mutation reported in two Amish families to date.Created: 30 May 2017, 8 a.m.
Comment on mode of inheritance: Original review by me had erroneous MOI. Corrected.Created: 30 May 2017, 7:59 a.m.
Comment on list classification: Two unrelated families to date. From a founder population with the same mutation.Created: 30 May 2017, 7:59 a.m.
Only two families to date. Relevant phenotype. Watchlist.Created: 30 May 2017, 7:57 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Endocrine-cerebroosteodysplasia 612651
Publications
Mode of pathogenicity
Other
Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia 612651 to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tag new-gene-name tag was added to gene: ICK.
Source NHS GMS was added to ICK.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for ICK was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
ICK was added to Hydrocephaluspanel. Sources: Literature
ICK was created by helen.brittain